PEX26

Protein identityUniProt · HPA

UniProt accession

Q7Z412

Gene

PEX26

Ensembl

ENSG00000215193

Chromosome

22

Canonical length

305 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>Q7Z412|PEX26
     1  MKSDSSTSAA PLRGLGGPLR SSEPVRAVPA RAPAVDLLEE AADLLVVHLD FRAALETCER
    61  AWQSLANHAV AEEPAGTSLE VKCSLCVVGI QALAEMDRWQ EVLSWVLQYY QVPEKLPPKV
   121  LELCILLYSK MQEPGAVLDV VGAWLQDPAN QNLPEYGALA EFHVQRVLLP LGCLSEAEEL
   181  VVGSAAFGEE RRLDVLQAIH TARQQQKQEH SGSEEAQKPN LEGSVSHKFL SLPMLVRQLW
   241  DSAVSHFFSL PFKKSLLAAL ILCLLVVRFD PASPSSLHFL YKLAQLFRWI RKAAFSRLYQ
   301  LRIRD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX26 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX26.

Disease | AllUniProt

Conditions PEX26 is implicated in, by any mechanism.

• Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) MIM:614872
• Peroxisome biogenesis disorder 7A (PBD7A) MIM:614872
• Peroxisome biogenesis disorder 7B (PBD7B) MIM:614873

Disease | GeneticClinVar

64 pathogenic / likely-pathogenic of 612 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Peroxisome biogenesis disorder 7A (Zellweger)
• Peroxisome biogenesis disorder 7B
• Peroxisome biogenesis disorder
• PEX26-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.37

gnomAD pLI

0.93

gnomAD missense Z

-0.37

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• protein import into peroxisome matrix
• protein import into peroxisome membrane
• protein to membrane docking

Molecular functions

• ATPase binding
• protein-containing complex binding
• protein-membrane adaptor activity

Cellular components

• cytosol
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Peroxisome assembly protein 26
• Pex26 protein

KeywordsUniProt

• Membrane
• Peroxisome
• Peroxisome biogenesis disorder
• Protein transport
• Signal-anchor
• Transmembrane
• Transmembrane helix
• Transport
• Zellweger syndrome

InteractionsUniProt · HPA

Protein binding partners of PEX26 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PEX1
• PEX6
• PEX19
• SUFU